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False positivity of ETV6/RUNX1 detected by FISH in healthy newborns and adults

Authors

  • Maria Schioldan Kusk MD,

    1. Paediatrics and Adolescent Medicine, The University Hospital Rigshospitalet, Copenhagen, Denmark
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  • Ulrik Lausten-Thomsen MD, PhD,

    1. Paediatrics and Adolescent Medicine, The University Hospital Rigshospitalet, Copenhagen, Denmark
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  • Mette Klarskov Andersen MD, DMSc,

    1. Department of Clinical Genetics, The Cytogenic Laboratory, Section of Hematology-Oncology, The University Hospital Rigshospitalet, Copenhagen, Denmark
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  • Marianne Olsen MD, PhD,

    1. Paediatrics and Adolescent Medicine, The University Hospital Rigshospitalet, Copenhagen, Denmark
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  • Henrik Hjalgrim MD, DMSc,

    1. Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark
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  • Kjeld Schmiegelow MD, DMSc

    Corresponding author
    1. Paediatrics and Adolescent Medicine, The University Hospital Rigshospitalet, Copenhagen, Denmark
    2. The Medical Faculty, Institute of Gynaecology, Obstetrics and Paediatrics, University of Copenhagen, Copenhagen, Denmark
    • Correspondence to: Kjeld Schmiegelow, Paediatrics and Adolescent Medicine, Section 5704, The University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen 2100, Denmark.

      E-mail: kjeld.schmiegelow@rh.regionh.dk

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  • Conflict of interest: Nothing to declare.
  • Authorship contribution—M.S.K. performed all FISH analyses; U.L.-T. performed PCR analyses; M.S.K., U.L.-T., M.K.A., and K.S. designed the study; M.S.K., U.L.-T., and K.S. wrote the manuscript; M.K.A., M.O., and H.H. approved the manuscript.

Abstract

The leukemia-associated ETV6-RUNX1-translocation frequently emerges prenatally. Reverse-transcriptase PCR screening may indicate presence of ETV6-RUNX1 transcripts in random cord blood samples. Subsequent cell enrichment validation finds significantly lower levels than validation applying fluorescence in situ hybridization (FISH) (<10−5 vs. 10−3 to 10−4). Using three FISH probe sets, we screened 179,000 cells from ETV6-RUNX1-positive dilution series, healthy adults and random cord blood samples. The t(12;21) single fusion extra signal translocation probe and the ETV6 break apart probe gave false positive results mimicking ETV6-RUNX1-positive cell levels of 10−3. This questions the paradigm that 1% of newborns have ETV6-RUNX1-positive cells at levels of 10−3 to 10−4. Pediatr Blood Cancer 2014;61:1704–1706. © 2014 Wiley Periodicals, Inc.

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